Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis-Reference-Cited by-同舟云学术

Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis

Published:2022-02-23 Issue:4 Volume:11 Page:417-421
ISSN:2192-4449
Container-title:CEN Case Reports
language:en
Short-container-title:CEN Case Rep

Author:

Saha Anshuman^ORCID,Pande Priyadarshini,Vala Kinnari,Kapadia Shahenaz,Patel Himanshu

Publisher

Springer Science and Business Media LLC

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

https://link.springer.com/content/pdf/10.1007/s13730-022-00694-2.pdf

Reference18 articles.

1. Hoppe B, Leumann E, Millener DS. Urolithiasis and nephrocalcinosis in childhood. In: Geary DF, Schaefer F, editors. Comprehensive pediatric nephrology. Philadelphia: Elsevier; 2008. p. 499–525.

2. Devuyst O, Belge H, Konrad M, Jeunemaitre X, Zennaro M. Renal tubular disorders of electrolyte regulation in children. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL, editors. Pediatric nephrology. 7th ed. Heidelberg: Springer; 2016. p. 1202–15.

3. Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, et al. Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis. Clin J Am Soc Nephrol. 2016;11(4):664–72.

4. Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, et al. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018;93(1):204–13.

5. Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, et al. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015;26(3):543–51.